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Genetic services can help people who are affected by, or who are at risk of, inherited conditions or birth defects, to make informed choices about their healthcare...
Your genes are inherited and contain information that our cells use to control growth, development and health. Genetic changes disrupt these messages and can cause health problems. These may be present at birth or may appear later in life.
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Children inherit physical characteristics such as eye colour from their parents through their genes...
The characteristic features of Angelman syndrome are not always obvious at birth, but develop during childhood...
Ankylosing spondylitis (AS) is a type of inflammatory arthritis that targets the joints of the spine...
Symptoms of Barrett's oesophagus are similar to regular heartburn, which means many people don't seek treatment until their condition is quite advanced...
Latest research suggests that most cancers are caused by environmental rather than genetic factors...
Folic acid taken before conception, and during at least the first four weeks of pregnancy, can prevent around seven out of 10 cases of neural tube defects...
Charcot-Marie-Tooth disease is the most common inherited disorder affecting the peripheral nervous system...
Most cleft palates and cleft lips can be repaired so that appearance and speech develop normally...
Most children born with cri du chat syndrome have moderate intellectual disability, with varying degrees of speech delay and some health problems...
When a person has cystic fibrosis, their mucus glands secrete very thick sticky mucus that clogs the tiny air passages in the lungs and traps bacteria...
With the support and opportunities available to them today, most people with Down syndrome are able to achieve and participate as valued members of their community...
Dwarfism refers to a group of conditions characterised by shorter than normal skeletal growth...
The World Health Organization recommends that pregnant women should avoid alcohol...
Fibrous dysplasia causes abnormal growth or swelling of bone, but it is not a form of cancer...
The facts about fragile X syndrome are complicated, and parents and family members are invited to ask their doctor to refer them to a genetics clinic...
To the casual observer, a person with Friedreich ataxia may seem to be drunk...
Familial hypercholesterolaemia is an inherited condition characterised by higher than normal levels of blood cholesterol...
Haemochromatosis (iron overload disorder) tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses...
All children with severe haemophilia are given preventative treatment with infusions of blood products before they have a bleed...
The earlier that hearing loss is identified in children, the better for the child?s language, learning and overall development...
The symptoms of Huntington's disease usually, but not always, first appear when the person is approaching middle age...
Kabuki syndrome affects males and females equally and there is no cure...
Kennedy's disease is a rare inherited neuromuscular disorder that causes progressive weakening and wasting of the muscles, particularly the arms and legs...
Medullary cystic kidney disease causes the growth of abnormal cysts in the kidneys...
Polycystic kidney disease is a common cause of kidney failure in Australia and equally affects men and women of different ethnic backgrounds...
Leukodystrophy refers to a group of inherited disorders that affect the white matter of the brain, which causes loss of normal brain functions...
You should be investigated for long QT syndrome if you faint for no apparent reason, during or after exercise or emotional excitement...
The severity of symptoms or how a child with McCune-Albright syndrome will be affected throughout life is difficult to predict...
People affected by muscular dystrophy have different degrees of independence, mobility and carer needs...
Neurofibromatosis is caused by faulty genes, which may be inherited or have spontaneously mutated at conception...
Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features...
PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods...
Porphyria can affect the skin, nervous system, gastrointestinal system or all of these, depending on the specific type...
A feature of Prader-Willi syndrome is the child's excessive appetite, which often leads to obesity...
The symptoms of premature or early menopause are the same as for menopause at any age...
People with Rett syndrome have a keen desire to communicate...
A child with spinal muscular atrophy type 1 rarely lives beyond three years of age...
Tay-Sachs disease is a serious genetic disorder common in Ashkenazi Jews and French-Canadians...
Thalassaemia is an inherited blood disorder that can cause anaemia or death if not treated...
Milder forms of Tourette syndrome can be misdiagnosed, as it often occurs at the same time as attention deficit hyperactivity disorder (ADHD) and other disorders...
Treacher Collins syndrome is a genetic disorder that affects growth and development of the head, causing facial defects and hearing loss...
Children affected by trisomy usually have a range of birth defects, including delayed development and intellectual disabilities...
A person with von Willebrand disease may have frequent nosebleeds, heavy menstruation or excessive bleeding from the mouth...
Williams syndrome often goes undiagnosed, which means that some people with the disorder fail to get the support and treatment they need until later in life...